Overview

Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections. There are two forms of HIES, which have the above characteristics in common but otherwise have distinct presentations, courses and outcomes: autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES).[1] Individuals with AD-HIES may also have varying degrees of connective tissue, skeletal, and dental abnormalities as well as a distinctive facial appearance. This form is inherited in an autosomal dominant manner and is caused by mutations in the STAT3 gene in about 70% of cases.[2] Unique characteristics of AR-HIES include extreme hypereosinophilia; susceptibility to viral infections such as Herpes simplex and Molluscum contagiosum; central nervous system involvement; T-cell defects; and a high death rate. AR-HIES is inherited in an autosomal recessive manner and is often caused by mutations in the DOCK8 gene.[3]

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In Depth Information

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